Enfermedades monogenéticas en GeneReviews

Publicado porAlberto Alcantud
15q13.3 Recurrent Deletionhttps://www.ncbi.nlm.nih.gov/books/n/gene/mdel15q13_3/CNV
16p11.2 Recurrent Deletionhttps://www.ncbi.nlm.nih.gov/books/n/gene/del16p11_2/CNV
16p12.2 Recurrent Deletionhttps://www.ncbi.nlm.nih.gov/books/n/gene/mdel16p12_2/CNV
17q12 Recurrent Deletion Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/mdel17q12/CNV
17q12 Recurrent Duplicationhttps://www.ncbi.nlm.nih.gov/books/n/gene/dup17q12/CNV
1q21.1 Recurrent Deletionhttps://www.ncbi.nlm.nih.gov/books/n/gene/mdel1q21_1/CNV
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/cah/CNV
22q11.2 Deletion Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/gr_22q11deletion/CNV
3q29 Recurrent Deletionhttps://www.ncbi.nlm.nih.gov/books/n/gene/mdel3q29/CNV
7q11.23 Duplication Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/dup7q11_23/CNV
Abetalipoproteinemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/ab-lipo-p/Enfermedad metabólica
Aceruloplasminemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/acp/Enfermedad metabólica
Achondrogenesis Type 1Bhttps://www.ncbi.nlm.nih.gov/books/n/gene/achon1b/
Achondroplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/achondroplasia/
Achromatopsiahttps://www.ncbi.nlm.nih.gov/books/n/gene/achm/Oftalmológica
Acid Sphingomyelinase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/npab/Metabólica
ACTG2 Visceral Myopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/actg2-dis/
Acute Intermittent Porphyriahttps://www.ncbi.nlm.nih.gov/books/n/gene/aip/Metabólica
ADAMTSL4-Related Eye Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/adamtsl4-eyes/Oftalmológica
ADCY5 Dyskinesiahttps://www.ncbi.nlm.nih.gov/books/n/gene/adcy5-dysk/
Adenine Phosphoribosyltransferase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/aprt-def/Enfermedad metabólica
Adenosine Deaminase 2 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/ada2-def/Enfermedad autoinflamatoria o inmunodeficiencia
Adenosine Deaminase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/ada/Enfermedad autoinflamatoria o inmunodeficiencia
ADNP-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/adnp-dis/
Adult Refsum Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/refsum/Enfermedad metabólica
Aicardi Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/aic/Neuropediátrica
Aicardi-Goutières Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/ags/Neuropediátrica
AIP Familial Isolated Pituitary Adenomashttps://www.ncbi.nlm.nih.gov/books/n/gene/ipa/Oncológica
Alagille Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/alagille/Sindrómica
Alexander Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/alexander/Neuropediátrica
Alkaptonuriahttps://www.ncbi.nlm.nih.gov/books/n/gene/alkap/Metabólica
ALK-Related Neuroblastic Tumor Susceptibilityhttps://www.ncbi.nlm.nih.gov/books/n/gene/alk-nbs/Oncológica
Allan-Herndon-Dudley Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/thctd/Neuropediátrica
Alpha-1 Antitrypsin Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/alpha1-a/Neumológica
Alpha-Mannosidosishttps://www.ncbi.nlm.nih.gov/books/n/gene/a-mannosidosis/Metabólica
Alpha-Thalassemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/a-thal/Hematológica
Alpha-Thalassemia X-Linked Intellectual Disability Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/xlmr/Sindrómica
ALPK1-Related Autoinflammatory Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/alpk1-auto/Autoinflamatoria y inmunodeficiencias
Alport Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/alport/Nefrológica
ALS2-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/iahsp/
Alström Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/alstrom/
Alzheimer Disease Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/alzheimer/
Amyotrophic Lateral Sclerosis Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/als-overview/Neurológica
Andersen-Tawil Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/acpp/Cardiológica
Androgen Insensitivity Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/androgen/Endocrinológica
Angelman Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/angelman/Neuropediátrica
ANKRD17-Related Neurodevelopmental Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/ankrd17-nds/Neuropediátrica
ANKRD26-Related Thrombocytopeniahttps://www.ncbi.nlm.nih.gov/books/n/gene/ankrd26/Hematológica
ANO5 Muscle Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/ano5-md/Neuropediátrica
AP-4-Associated Hereditary Spastic Paraplegiahttps://www.ncbi.nlm.nih.gov/books/n/gene/ap4-def/Neuropediátrica
APC-Associated Polyposis Conditionshttps://www.ncbi.nlm.nih.gov/books/n/gene/fap/Oncológica
Apert Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/apert/Sindrómica
APOB-Related Familial Hypobetalipoproteinemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/apob-hbl/Metabólica
Arginase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/arg1/Metabólica
Argininosuccinate Lyase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/args-aciduria/Metabólica
ARID1B-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/arid1b-dis/Neuropediátrica
Aromatic L-Amino Acid Decarboxylase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/aadc-def/Metabólica
Arrhythmogenic Right Ventricular Cardiomyopathy Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/arvd/Cardiológica
ARSACShttps://www.ncbi.nlm.nih.gov/books/n/gene/arsacs/Neuropediátrica
Arterial Tortuosity Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/arterial-t/Cardiológica
Arylsulfatase A Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/mld/Metabólica
ASAH1-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/asah1/
Asparagine Synthetase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/as-def/Metabólica
Aspartylglucosaminuriahttps://www.ncbi.nlm.nih.gov/books/n/gene/agu/Metabólica
ASPM Primary Microcephalyhttps://www.ncbi.nlm.nih.gov/books/n/gene/aspm-pm/Neuropediátrica
ASXL3-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/asxl3/
Ataxia with Oculomotor Apraxia Type 2https://www.ncbi.nlm.nih.gov/books/n/gene/aoa2/Neuropediátrica
Ataxia with Vitamin E Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/aved/Neuropediátrica
Ataxia-Telangiectasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/ataxia-telangiectas/Neuropediátrica
ATN1-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/atn1-ndd/Neuropediátrica
ATP1A3-Related Neurologic Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/rapid-odp/Neuropediátrica
ATP6V0A2-Related Cutis Laxahttps://www.ncbi.nlm.nih.gov/books/n/gene/cutis-laxa/Sindrómica
ATP7A-Related Copper Transport Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/menkes/Neuropediátrica
ATP8B1 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/pfic/
Au-Kline Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/au-kline/
Autoimmune Lymphoproliferative Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/alps/Autoinflamatoria y Inmunodeficiencias
Autosomal Dominant Epilepsy with Auditory Featureshttps://www.ncbi.nlm.nih.gov/books/n/gene/peaf/Neuropediátrica
Autosomal Dominant Robinow Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/rob-ad/Sindrómica
Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsyhttps://www.ncbi.nlm.nih.gov/books/n/gene/adnfle/Neuropediátrica
Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1https://www.ncbi.nlm.nih.gov/books/n/gene/mckd1/Nefrológica
Autosomal Dominant Tubulointerstitial Kidney Disease – RENhttps://www.ncbi.nlm.nih.gov/books/n/gene/hyper-nfj2/Nefrológica
Autosomal Dominant Tubulointerstitial Kidney Disease – UMODhttps://www.ncbi.nlm.nih.gov/books/n/gene/mckd2/Nefrológica
Autosomal Dominant TRPV4 Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/cmt2c/
Autosomal Recessive Congenital Ichthyosishttps://www.ncbi.nlm.nih.gov/books/n/gene/li-ar/Dermatológica
Autosomal Recessive Polycystic Kidney Disease – PKHD1https://www.ncbi.nlm.nih.gov/books/n/gene/pkd-ar/Nefrológica
Aymé-Gripp Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/ayme-gripp/
Bachmann-Bupp Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/bachmann-bupp/
Baller-Gerold Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/bgs/
BAP1 Tumor Predisposition Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/bap1-tpds/Oncológica
Baraitser-Winter Cerebrofrontofacial Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/baraitser-winter/Sindrómica
Bardet-Biedl Syndrome Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/bbs/Neuropediátrica
Barth Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/barth/Nefrológica
BCL11A-Related Intellectual Disabilityhttps://www.ncbi.nlm.nih.gov/books/n/gene/bcl11a-id/Neuropediátrica
Beckwith-Wiedemann Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/bws/Sindrómcia
Berardinelli-Seip Congenital Lipodystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/bscl/
Bestrophinopathieshttps://www.ncbi.nlm.nih.gov/books/n/gene/bvd/
Beta-Propeller Protein-Associated Neurodegenerationhttps://www.ncbi.nlm.nih.gov/books/n/gene/bpan/Neuropediátrica
Beta-Thalassemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/b-thal/Hematológica
Bietti Crystalline Dystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/bietti-cd/
Biotinidase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/biotin/Metabólica
Biotin-Thiamine-Responsive Basal Ganglia Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/bgd-biotin/Neuropediátrica
Birt-Hogg-Dubé Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/bhd/
Blepharophimosis, Ptosis, and Epicanthus Inversus Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/bpes/Sindrómica
Bloom Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/bloom/Oncológica
Bohring-Opitz Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/bohring-opitz/Sindrómica
Branchiooculofacial Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/bofs/Sindrómica
Branchiootorenal Spectrum Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/bor/Sindrómica
BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancerhttps://www.ncbi.nlm.nih.gov/books/n/gene/brca1/Oncológica
Brugada Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/brugada/Cardiológica
Bryant-Li-Bhoj Neurodevelopmental Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/brylib/Neuropediátrica
BSCL2-Related Neurologic Disorders / Seipinopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/spg17/Neuropediátrica
C3 Glomerulopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/mpgn/Nefrológica
C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosishttps://www.ncbi.nlm.nih.gov/books/n/gene/als-ftd/Neurológica
CACNA1C-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/timothy/Neuropediátrica
CADASILhttps://www.ncbi.nlm.nih.gov/books/n/gene/cadasil/Neuropediátrica
Caffey Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/caffey/
Calpainopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/lgmd2a/Neuropediátrica
Campomelic Dysplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/campo-dysp/Sindrómica
Camurati-Engelmann Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/ced/
Canavan Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/canavan/Neuropediátrica
Cantú Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/cantu/
Capillary Malformation-Arteriovenous Malformation Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/rasa1-rel-dis/Neuropediátrica
Carbonic Anhydrase VA Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/ca5a-def/Metabólica
Cardiofaciocutaneous Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/cfc/Sindrómica
Carney Complexhttps://www.ncbi.nlm.nih.gov/books/n/gene/carney/Oncológica
Carnitine Palmitoyltransferase 1A Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/cpt1a/Metabólica
Carnitine Palmitoyltransferase II Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/cpt2/Metabólica
Carnitine-Acylcarnitine Translocase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/cact-def/Metabólica
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/chh/Dermatológica
CASK Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/cask-dis/
Catecholaminergic Polymorphic Ventricular Tachycardiahttps://www.ncbi.nlm.nih.gov/books/n/gene/cvt/Cardiológica
CDC73-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/hrpt2/
CDK13-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/cdk13-dis/Neuropediátrica
CDKL5 Deficiency Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/cdkl5-def/Neuropediátrica
CEBPA-Associated Familial Acute Myeloid Leukemia (AML)https://www.ncbi.nlm.nih.gov/books/n/gene/cebpa-aml/Oncológica
Celiac Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/celiac/Gastroenterológica
Cerebrotendinous Xanthomatosishttps://www.ncbi.nlm.nih.gov/books/n/gene/ctx/Neuropediátrica
Char Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/char/
Charcot-Marie-Tooth Hereditary Neuropathy Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/cmt/Neuropediátrica
CHCHD10-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/chchd10-dis/
CHD2-Related Neurodevelopmental Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/chd2-dis/Neuropediátrica
CHD4 Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/chd4-ndd/Neuropediátrica
CHD7 Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/charge/
CHD8-Related Neurodevelopmental Disorder with Overgrowthhttps://www.ncbi.nlm.nih.gov/books/n/gene/chd8-ndd-og/Neuropediátrica
Chediak-Higashi Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/chediak-higashi/Autoinflamatorias y Inmunodeficiencias
Cherubismhttps://www.ncbi.nlm.nih.gov/books/n/gene/cherubism/
Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matterhttps://www.ncbi.nlm.nih.gov/books/n/gene/cach/Neuropediátrica
CHKB-Related Muscular Dystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/chkb-md/Neuropediátrica
CHMP2B Frontotemporal Dementiahttps://www.ncbi.nlm.nih.gov/books/n/gene/ftd-chmp2b/Neurológica
Chondrodysplasia Punctata 1, X-Linkedhttps://www.ncbi.nlm.nih.gov/books/n/gene/cdp1-xlr/Metabólica
Chondrodysplasia Punctata 2, X-Linkedhttps://www.ncbi.nlm.nih.gov/books/n/gene/x-dcdp/Metabólica
Chondrodysplasia with Congenital Joint Dislocations, CHST3-Relatedhttps://www.ncbi.nlm.nih.gov/books/n/gene/cd-chst3/
Choroideremiahttps://www.ncbi.nlm.nih.gov/books/n/gene/choroid/Oftalmológica
Christianson Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/christianson/Neuropediátrica
Chronic Granulomatous Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/cgd/Autoinflamatorias y inmunodeficiencias
Chylomicron Retention Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/cmr/Metabólica
Citrin Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/citrin/Metabólica
Citrullinemia Type Ihttps://www.ncbi.nlm.nih.gov/books/n/gene/ctlm/Metabólica
Classic Ehlers-Danlos Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/eds/Sindrómica
Classic Galactosemia and Clinical Variant Galactosemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/galactosemia/Metabólica
Classic Isovaleric Acidemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/isovaleric-a/Metabólica
CLCN2-Related Leukoencephalopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/cc2-leuk/Neuropediátrica
CLCN4-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/clcn4-ndd/Neuropediátrica
CLCN7-Related Osteopetrosishttps://www.ncbi.nlm.nih.gov/books/n/gene/clcn7/Neuropediátrica
Cleidocranial Dysplasia Spectrum Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/ccd/Sindrómica
CLPB Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/clpb-def/
Cockayne Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/cockayne/Oncológica
Coffin-Siris Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/coffin-siris/Neuropediátrica
Cohen Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/cohen/Neuropediátrica
COL1A1/2 Osteogenesis Imperfectahttps://www.ncbi.nlm.nih.gov/books/n/gene/oi/Conectivopatía
COL4A1-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/col4a1-dis/Conectivopatía
Cold-Induced Sweating Syndrome Including Crisponi Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/ciss/Neuropediátrica
Collagen VI-Related Dystrophieshttps://www.ncbi.nlm.nih.gov/books/n/gene/bethlem/Conectivopatía
Complete Plasminogen Activator Inhibitor 1 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/pai-1-def/Hematológica
COMP-Related Pseudoachondroplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/psach/Sindrómica
Congenital Central Hypoventilation Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/ondine/Neumológica
Congenital Contractural Arachnodactylyhttps://www.ncbi.nlm.nih.gov/books/n/gene/cca/Conectivopatía
Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontiahttps://www.ncbi.nlm.nih.gov/books/n/gene/df-lamm/Sindrómica
Congenital Diaphragmatic Hernia Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/cdh-ov/Sindrómica
Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/cdg/Metabólica
Congenital Dyserythropoietic Anemia Type Ihttps://www.ncbi.nlm.nih.gov/books/n/gene/cda1/Hematológica
Congenital Erythropoietic Porphyriahttps://www.ncbi.nlm.nih.gov/books/n/gene/cep/Metabólica
Congenital Fibrosis of the Extraocular Muscles Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/cfeom/Oftalmológica
Congenital Insensitivity to Pain Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/cip-overview/Neuropediátrica
Congenital Mirror Movementshttps://www.ncbi.nlm.nih.gov/books/n/gene/mirror/Neuropediátrica
Congenital Myasthenic Syndromes Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/cms/Neuropediátrica
Congenital NAD Deficiency Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/nad-def/
Congenital Stromal Corneal Dystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/csc-dys/Oftalmológica
Cornelia de Lange Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/cdls/Sindrómica
Costeff Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/mga3/
Cranioectodermal Dysplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/ce-dysp/Sindrómica
Craniometaphyseal Dysplasia, Autosomal Dominanthttps://www.ncbi.nlm.nih.gov/books/n/gene/cranio-md/Sindrómica
Creatine Deficiency Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/creatine/Metabólica
CSF1R-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/hdls/
CSNK2B-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/csnk2b-ndd/Neuropediátrica
CTCF-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/ctcf-dis/
CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/ccfdn/
CTNNB1 Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/ctnnb1-ndd/
CYLD Cutaneous Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/cyld-cs/
Cystic Fibrosishttps://www.ncbi.nlm.nih.gov/books/n/gene/cf/
Cystinosishttps://www.ncbi.nlm.nih.gov/books/n/gene/ctns/
Cytochrome P450 Oxidoreductase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/abs/
Danon Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/danon/
DCTN1-Related Neurodegenerationhttps://www.ncbi.nlm.nih.gov/books/n/gene/perry/
DCX-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/dcx/
DDX3X-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/ddx3x-ndd/
DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/ddx41-mds/
Deafness and Myopia Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/dfn-myop/
Deafness-Dystonia-Optic Neuronopathy Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/ddon/
Dent Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/dent/
Deoxyguanosine Kinase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/dguok-mtddepl/
DEPDC5-Related Epilepsyhttps://www.ncbi.nlm.nih.gov/books/n/gene/depdc5-epilepsy/
DFNA2 Nonsyndromic Hearing Losshttps://www.ncbi.nlm.nih.gov/books/n/gene/dfna2/
Diabetes Mellitus, 6q24-Related Transient Neonatalhttps://www.ncbi.nlm.nih.gov/books/n/gene/dmtn/
Diamond-Blackfan Anemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/diamond-b/
Diastrophic Dysplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/diastrophic-d/
DICER1 Tumor Predispositionhttps://www.ncbi.nlm.nih.gov/books/n/gene/pp-blastoma/
Dihydrolipoamide Dehydrogenase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/dld-def/
Dilated Cardiomyopathy Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/dcm-ov/
Disorders of Intracellular Cobalamin Metabolismhttps://www.ncbi.nlm.nih.gov/books/n/gene/cbl/
Disorders of GNAS Inactivationhttps://www.ncbi.nlm.nih.gov/books/n/gene/gnas-dis/
DLG4-Related Synaptopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/dlg4-synap/
DNAJC6 Parkinson Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/dnajc6-pd/
DNMT1-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/dnmt1-ddsn/
Donnai-Barrow Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/donnai/
Dopamine Beta-Hydroxylase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/dbh/
DRPLAhttps://www.ncbi.nlm.nih.gov/books/n/gene/drpla/
Duane Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/duane/
Duarte Variant Galactosemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/duarte-gal/
DYNC1H1-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/dync1h1-dis/
DYRK1A Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/dyrk1a-id/
Dysferlinopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/miyoshi/
Dyskeratosis Congenita and Related Telomere Biology Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/dkc/
Dystrophic Epidermolysis Bullosahttps://www.ncbi.nlm.nih.gov/books/n/gene/ebd/
Dystrophinopathieshttps://www.ncbi.nlm.nih.gov/books/n/gene/dbmd/
DYT1 Early-Onset Isolated Dystoniahttps://www.ncbi.nlm.nih.gov/books/n/gene/dystonia/
DYT-GNALhttps://www.ncbi.nlm.nih.gov/books/n/gene/gnal-dystonia/
EBF3 Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/ebf3-ndd/
EED-Related Overgrowthhttps://www.ncbi.nlm.nih.gov/books/n/gene/eed-og/
EFEMP2-Related Cutis Laxahttps://www.ncbi.nlm.nih.gov/books/n/gene/efemp2-cutis-laxa/
ELANE-Related Neutropeniahttps://www.ncbi.nlm.nih.gov/books/n/gene/cyclic-n/
El-Hattab-Alkuraya Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/el-hattab-alkuraya/
Ellis-van Creveld Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/evc/
ELN-Related Cutis Laxahttps://www.ncbi.nlm.nih.gov/books/n/gene/eln-cutis-laxa/
Emanuel Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/emanuel/
EMC10-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/emc10-ndd/
Emery-Dreifuss Muscular Dystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/edmd/
Encephalocraniocutaneous Lipomatosishttps://www.ncbi.nlm.nih.gov/books/n/gene/eccl/
Enlarged Parietal Foraminahttps://www.ncbi.nlm.nih.gov/books/n/gene/msx2/
ENTPD1-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/entpd1-ndd/
EPB42-Related Hereditary Spherocytosishttps://www.ncbi.nlm.nih.gov/books/n/gene/epb42-spherocytosis/
EPG5-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/epg5/
Epidermolysis Bullosa Simplexhttps://www.ncbi.nlm.nih.gov/books/n/gene/ebs/
Epidermolysis Bullosa with Pyloric Atresiahttps://www.ncbi.nlm.nih.gov/books/n/gene/eb-pa/
Epimerase Deficiency Galactosemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/gale-def/
Episodic Ataxia Type 1https://www.ncbi.nlm.nih.gov/books/n/gene/ea1/
Erythropoietic Protoporphyria, Autosomal Recessivehttps://www.ncbi.nlm.nih.gov/books/n/gene/epp-ar/
ESCO2 Spectrum Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/rbs/
Ethylmalonic Encephalopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/ee/
ETV6 Thrombocytopenia and Predisposition to Leukemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/etv6-tpl/
EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxityhttps://www.ncbi.nlm.nih.gov/books/n/gene/exoc6b-semd/
EXOSC3 Pontocerebellar Hypoplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/exosc3-pc-hypo-p/
EZH2-Related Overgrowthhttps://www.ncbi.nlm.nih.gov/books/n/gene/weaver/
Fabry Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/fabry/
Facioscapulohumeral Muscular Dystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/fsh/
Factor V Leiden Thrombophiliahttps://www.ncbi.nlm.nih.gov/books/n/gene/factor-v-leiden/
FAM111A-Related Skeletal Dysplasiashttps://www.ncbi.nlm.nih.gov/books/n/gene/fam111a-dysp/
Familial Cerebral Cavernous Malformationshttps://www.ncbi.nlm.nih.gov/books/n/gene/ccm/
Familial Combined Hypolipidemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/fch/
Familial Dysautonomiahttps://www.ncbi.nlm.nih.gov/books/n/gene/fd/
Familial Hemiplegic Migrainehttps://www.ncbi.nlm.nih.gov/books/n/gene/fhm/
Familial Hemophagocytic Lymphohistiocytosishttps://www.ncbi.nlm.nih.gov/books/n/gene/hlh/
Familial Hypercholesterolemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/hyperchol/
Familial Hyperinsulinismhttps://www.ncbi.nlm.nih.gov/books/n/gene/hi/
Familial Lipoprotein Lipase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/lpl/
Familial Mediterranean Feverhttps://www.ncbi.nlm.nih.gov/books/n/gene/fmf/
Familial Paroxysmal Nonkinesigenic Dyskinesiahttps://www.ncbi.nlm.nih.gov/books/n/gene/pnknd/
Familial Porphyria Cutanea Tardahttps://www.ncbi.nlm.nih.gov/books/n/gene/porphyria-ct/
Fanconi Anemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/fa/
FARS2 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/fars2-def/
Fatty Acid Hydroxylase-Associated Neurodegenerationhttps://www.ncbi.nlm.nih.gov/books/n/gene/fahn/
FBLN5-Related Cutis Laxahttps://www.ncbi.nlm.nih.gov/books/n/gene/fbln5-cutis-laxa/
FBN1-Related Marfan Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/marfan/
FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/fbxl4-mtddepl/
Feingold Syndrome 1https://www.ncbi.nlm.nih.gov/books/n/gene/feingold/
FGFR Craniosynostosis Syndromes Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/craniosynostosis/
FGFR1-Related Hartsfield Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/hartsfield/
FH Tumor Predisposition Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/hlrcc/
Fibrodysplasia Ossificans Progressivahttps://www.ncbi.nlm.nih.gov/books/n/gene/fop/
Fibrous Dysplasia / McCune-Albright Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/mccune-albright/
FKBP14 Kyphoscoliotic Ehlers-Danlos Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/fkbp14-keds/
FLNA Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/x-pvh/
FLNB Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/flnb-dis/
Floating-Harbor Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/fhs/
FMR1 Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/fragilex/
FOLR1-Related Cerebral Folate Transport Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/folr1-cft-def/
FOXG1 Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/foxg1-ndd/
FOXP1 Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/foxp1/
FOXP2-Related Speech and Language Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/foxp2-sl-dis/
Free Sialic Acid Storage Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/issd/
FREM1 Autosomal Recessive Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/mota/
Friedreich Ataxiahttps://www.ncbi.nlm.nih.gov/books/n/gene/friedreich/
FRMD7-Related Infantile Nystagmushttps://www.ncbi.nlm.nih.gov/books/n/gene/xl-nystag/
Fructose-1,6-Bisphosphatase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/fructose1-6-def/
Fryns Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/fryns/
Fukuyama Congenital Muscular Dystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/fcmd/
Fumarate Hydratase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/fum/
G6PC3 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/g6pc3-def/
GAA-FGF14-Related Ataxiahttps://www.ncbi.nlm.nih.gov/books/n/gene/fgf14-ataxia/
Gabriele-de Vries Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/gabriele-devries/
GAN-Related Neurodegenerationhttps://www.ncbi.nlm.nih.gov/books/n/gene/gan/
GARS1-Associated Axonal Neuropathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/cmt2d/
GATA1-Related Cytopeniahttps://www.ncbi.nlm.nih.gov/books/n/gene/gata1/
Gaucher Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/gaucher/
GBE1 Adult Polyglucosan Body Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/apbd/
GDAP1-Related Hereditary Motor and Sensory Neuropathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/cmt-4a/
Geleophysic Dysplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/geleophys-dysp/
Generalized Arterial Calcification of Infancyhttps://www.ncbi.nlm.nih.gov/books/n/gene/gaci/
Genetic Atypical Hemolytic-Uremic Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/husa/
Genetic Hearing Loss Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/deafness-overview/
Genetic Prion Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/prion/
Genetic Steroid-Resistant Nephrotic Syndrome Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/srns-ov/
GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypeshttps://www.ncbi.nlm.nih.gov/books/n/gene/cmtx/
GJB2-Related Autosomal Recessive Nonsyndromic Hearing Losshttps://www.ncbi.nlm.nih.gov/books/n/gene/dfnb1/
GLB1-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/gm1-ganglio/
GLI3-Related Pallister-Hall Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/phs/
Glucose Transporter Type 1 Deficiency Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/glut1/
Glutaric Acidemia Type 1https://www.ncbi.nlm.nih.gov/books/n/gene/glutaric-a1/
Glycogen Storage Disease Type Ihttps://www.ncbi.nlm.nih.gov/books/n/gene/gsd1/
Glycogen Storage Disease Type IIIhttps://www.ncbi.nlm.nih.gov/books/n/gene/gsd3/
Glycogen Storage Disease Type IVhttps://www.ncbi.nlm.nih.gov/books/n/gene/gsd4/
Glycogen Storage Disease Type Vhttps://www.ncbi.nlm.nih.gov/books/n/gene/gsd5/
Glycogen Storage Disease Type VIhttps://www.ncbi.nlm.nih.gov/books/n/gene/gsd6/
GLYT1 Encephalopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/glyt1-dis/
GM2 Activator Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/gm2a-def/
GM3 Synthase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/gm3-def/
GNAI1-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/gnai1-ndd/
GNAO1-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/gnao1-dis/
GNB1 Encephalopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/gnb1-e/
GNB5-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/gnb5-ndd/
GNE Myopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/ibm/
GNPTAB-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/ml2/
Greig Cephalopolysyndactyly Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/gcps/
GRIA2-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/gria2-ndd/
GRIN1-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/grin1-ndd/
GRIN2A-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/grin2a-dis/
GRIN2B-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/grin2b/
GRIN2D-Related Developmental and Epileptic Encephalopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/grin2d-dee/
GRN Frontotemporal Dementiahttps://www.ncbi.nlm.nih.gov/books/n/gene/ftd-grn/
GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystoniahttps://www.ncbi.nlm.nih.gov/books/n/gene/drd/
Hand-Foot-Genital Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/hfg/
Hemophilia Ahttps://www.ncbi.nlm.nih.gov/books/n/gene/hemo-a/
Hemophilia Bhttps://www.ncbi.nlm.nih.gov/books/n/gene/hemo-b/
Hepatic Veno-Occlusive Disease with Immunodeficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/vodi/
Hepatoerythropoietic Porphyriahttps://www.ncbi.nlm.nih.gov/books/n/gene/hep/
Hereditary Ataxia Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/ataxias/
Hereditary Coproporphyriahttps://www.ncbi.nlm.nih.gov/books/n/gene/hcp/
Hereditary Diffuse Gastric Cancerhttps://www.ncbi.nlm.nih.gov/books/n/gene/hgc/
Hereditary Distal Renal Tubular Acidosishttps://www.ncbi.nlm.nih.gov/books/n/gene/hered-drta/
Hereditary Dystonia Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/dystonia-ov/
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosishttps://www.ncbi.nlm.nih.gov/books/n/gene/hfpoik-tmp/
Hereditary Folate Malabsorptionhttps://www.ncbi.nlm.nih.gov/books/n/gene/folate-mal/
Hereditary Fructose Intolerancehttps://www.ncbi.nlm.nih.gov/books/n/gene/hfi/
Hereditary Hemorrhagic Telangiectasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/hht/
Hereditary Hyperekplexia Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/hyperek/
Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosumhttps://www.ncbi.nlm.nih.gov/books/n/gene/accpn/
Hereditary Multiple Osteochondromashttps://www.ncbi.nlm.nih.gov/books/n/gene/ext/
Hereditary Myopathy with Early Respiratory Failurehttps://www.ncbi.nlm.nih.gov/books/n/gene/hmerf/
Hereditary Nephrogenic Diabetes Insipidushttps://www.ncbi.nlm.nih.gov/books/n/gene/ndi/
Hereditary Neuropathy with Liability to Pressure Palsieshttps://www.ncbi.nlm.nih.gov/books/n/gene/hnpp/
Hereditary Paraganglioma-Pheochromocytoma Syndromeshttps://www.ncbi.nlm.nih.gov/books/n/gene/paragangliomas/
Hereditary Sensory and Autonomic Neuropathy Type IIhttps://www.ncbi.nlm.nih.gov/books/n/gene/hsan2/
Hereditary Spastic Paraplegia Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/hsp/
Hereditary Transthyretin Amyloidosishttps://www.ncbi.nlm.nih.gov/books/n/gene/tfap/
Heritable Pulmonary Arterial Hypertension Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/pph/
Heritable Thoracic Aortic Disease Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/taa/
Hermansky-Pudlak Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/hps/
HEXA Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/tay-sachs/
HFE-Related Hemochromatosishttps://www.ncbi.nlm.nih.gov/books/n/gene/hemochromatosis/
Hidrotic Ectodermal Dysplasia 2https://www.ncbi.nlm.nih.gov/books/n/gene/ed2/
HIST1H1E Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/h1-4/
HNRNPH2-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/hnrnph2-ndd/
HNRNPU-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/hnrnpu-ndd/
Holoprosencephaly Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/hpe-overview/
Holt-Oram Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/hos/
Homocystinuria Caused by Cystathionine Beta-Synthase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/homocystinuria/
HPRT1 Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/lns/
HRAS-Related Costello Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/costello/
HTRA1 Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/carasil/
Huntington Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/huntington/
Huntington Disease-Like 2https://www.ncbi.nlm.nih.gov/books/n/gene/hd-l2/
Huppke-Brendel Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/huppke-brendel/
Hutchinson-Gilford Progeria Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/hgps/
HYAL2 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/hyal2-def/
Hyaline Fibromatosis Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/sys-h/
Hyperkalemic Periodic Paralysishttps://www.ncbi.nlm.nih.gov/books/n/gene/hyper-pp/
Hypermanganesemia with Dystonia 1https://www.ncbi.nlm.nih.gov/books/n/gene/hmdpc/
Hypermobile Ehlers-Danlos Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/eds3/
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/hhhs/
Hyperphosphatemic Familial Tumoral Calcinosishttps://www.ncbi.nlm.nih.gov/books/n/gene/hyper-ftc/
Hypertrophic Cardiomyopathy Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/hyper-card/
Hypochondroplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/hypochondroplasia/
Hypohidrotic Ectodermal Dysplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/x-hed/
Hypokalemic Periodic Paralysishttps://www.ncbi.nlm.nih.gov/books/n/gene/hpp/
Hypomyelination and Congenital Cataracthttps://www.ncbi.nlm.nih.gov/books/n/gene/hypo-mcc/
Hypophosphatasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/hops/
IMAGe Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/image/
Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementiahttps://www.ncbi.nlm.nih.gov/books/n/gene/ibmpfd/
Incontinentia Pigmentihttps://www.ncbi.nlm.nih.gov/books/n/gene/i-p/
INSR-Related Severe Insulin Resistance Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/insr-ir/
IPEX Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/ipex/
IRF6-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/vws/
ISCA1-Related Multiple Mitochondrial Dysfunctions Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/isca1-mmds/
ISCA2-Related Mitochondrial Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/isca2-mt-dis/
Isolated and Classic Cutis Marmorata Telangiectatica Congenitahttps://www.ncbi.nlm.nih.gov/books/n/gene/cmtc/
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/kms/
Isolated Methylmalonic Acidemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/mma/
Isolated Sulfite Oxidase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/iso-def/
Jervell and Lange-Nielsen Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/jln/
Joubert Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/joubert/
Junctional Epidermolysis Bullosahttps://www.ncbi.nlm.nih.gov/books/n/gene/ebj/
Juvenile Hemochromatosishttps://www.ncbi.nlm.nih.gov/books/n/gene/jh/
Juvenile Polyposis Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/jps/
Kabuki Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/kabuki/
KAT6B Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/kat6b-dis/
Kaufman Oculocerebrofacial Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/kos/
KBG Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/kbgs/
KCNK9 Imprinting Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/kcnk9-is/
KCNQ2-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/bfns/
KCNQ3-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/kcnq3-dis/
KCNT1-Related Epilepsyhttps://www.ncbi.nlm.nih.gov/books/n/gene/kcnt1-epilepsy/
Kindler Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/kindler/
Kleefstra Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/kleefstra/
KMT2B-Related Dystoniahttps://www.ncbi.nlm.nih.gov/books/n/gene/kmt2b-dystonia/
KMT2E-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/kmt2e-ndd/
Koolen-de Vries Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/mdel17q21_31/
KPTN-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/kptn-dis/
Krabbe Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/krabbe/
L1 Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/l1cam/
Laing Distal Myopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/mpd1/
LAMA2 Muscular Dystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/mdef-cmd/
Lathosterolosishttps://www.ncbi.nlm.nih.gov/books/n/gene/lathosterolosis/
Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/lca-ov/
Leber Hereditary Optic Neuropathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/lhon/
Legius Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/legius/
Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevationhttps://www.ncbi.nlm.nih.gov/books/n/gene/lbsl/
Li-Fraumeni Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/li-fraumeni/
Lipoid Proteinosishttps://www.ncbi.nlm.nih.gov/books/n/gene/lipoid-p/
LMNA-Related Dilated Cardiomyopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/dcm-lmna/
LMNB1-Related Autosomal Dominant Leukodystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/lad-ad/
Loeys-Dietz Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/loeys-dietz/
Long QT Syndrome Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/rws/
Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/lchad/
Lowe Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/lowe/
LPIN2-Related Majeed Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/lpin2-majeed/
LRRK2 Parkinson Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/lrrk2/
LTBP4-Related Cutis Laxahttps://www.ncbi.nlm.nih.gov/books/n/gene/ltbp4-cutis-laxa/
Lymphedema-Distichiasis Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/lds/
Lynch Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/hnpcc/
Lysinuric Protein Intolerancehttps://www.ncbi.nlm.nih.gov/books/n/gene/lpi/
Lysosomal Acid Lipase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/lal-def/
LZTR1- and SMARCB1-Related Schwannomatosishttps://www.ncbi.nlm.nih.gov/books/n/gene/schwann/
Malignant Hyperthermia Susceptibilityhttps://www.ncbi.nlm.nih.gov/books/n/gene/mhs/
Mandibulofacial Dysostosis with Microcephalyhttps://www.ncbi.nlm.nih.gov/books/n/gene/mf-dys-mic/
Maple Syrup Urine Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/msud/
MAPT-Related Frontotemporal Dementiahttps://www.ncbi.nlm.nih.gov/books/n/gene/ftdp-17/
Marinesco-Sjögren Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/mss/
Maternal 15q Duplication Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/dup15q/
Maturity-Onset Diabetes of the Young Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/mody-ov/
MBD5 Haploinsufficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/mbd5-dis/
MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymeshttps://www.ncbi.nlm.nih.gov/books/n/gene/mbtps1-semd/
McKusick-Kaufman Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/mkks/
McLeod Neuroacanthocytosis Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/mcleod/
MECP2 Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/rett/
MECP2 Duplication Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/mecp2-dup/
MECR-Related Neurologic Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/mecr-dis/
MED12-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/fg/
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/mcad/
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/mmihs-ov/
Megalencephalic Leukoencephalopathy with Subcortical Cystshttps://www.ncbi.nlm.nih.gov/books/n/gene/mlc/
MELAShttps://www.ncbi.nlm.nih.gov/books/n/gene/melas/
MERRFhttps://www.ncbi.nlm.nih.gov/books/n/gene/merrf/
MFN2 Hereditary Motor and Sensory Neuropathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/cmt2a/
Microcephalic Osteodysplastic Primordial Dwarfism Type IIhttps://www.ncbi.nlm.nih.gov/books/n/gene/mopd2/
Microcephaly-Capillary Malformation Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/miccap-ms/
Microphthalmia with Linear Skin Defects Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/microph-lsd/
MID1-Related Opitz G/BBB Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/opitz/
Milroy Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/milroy/
MIRAGE Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/mirage/
Mitochondrial DNA Maintenance Defects Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/mtdna-md-ov/
Mitochondrial DNA-Associated Leigh Syndrome Spectrumhttps://www.ncbi.nlm.nih.gov/books/n/gene/narp/
Mitochondrial Membrane Protein-Associated Neurodegenerationhttps://www.ncbi.nlm.nih.gov/books/n/gene/mt-mpan/
Mitochondrial Neurogastrointestinal Encephalopathy Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/mngie/
Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/echs1-def/
MN1 C-Terminal Truncation Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/mn1-ctt/
Molybdenum Cofactor Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/mc-def/
Monosomy 7 Predisposition Syndromes Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/monosomy7-ov/
Mowat-Wilson Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/mws/
MPPH Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/mpph/
MPV17-Related Mitochondrial DNA Maintenance Defecthttps://www.ncbi.nlm.nih.gov/books/n/gene/mpv17-mtdep/
Mucolipidosis III Gammahttps://www.ncbi.nlm.nih.gov/books/n/gene/ml3c/
Mucolipidosis IVhttps://www.ncbi.nlm.nih.gov/books/n/gene/ml4/
Mucopolysaccharidosis Type Ihttps://www.ncbi.nlm.nih.gov/books/n/gene/mps1/
Mucopolysaccharidosis Type IIhttps://www.ncbi.nlm.nih.gov/books/n/gene/hunter/
Mucopolysaccharidosis Type IIIhttps://www.ncbi.nlm.nih.gov/books/n/gene/mps3/
Mucopolysaccharidosis Type IVAhttps://www.ncbi.nlm.nih.gov/books/n/gene/mps4a/
Mucopolysaccharidosis Type VIIhttps://www.ncbi.nlm.nih.gov/books/n/gene/mps7/
Muenke Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/muenke/
Multicentric Osteolysis Nodulosis and Arthropathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/mona/
Multiple Acyl-CoA Dehydrogenase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/madd/
Multiple Endocrine Neoplasia Type 1https://www.ncbi.nlm.nih.gov/books/n/gene/men1/
Multiple Endocrine Neoplasia Type 2https://www.ncbi.nlm.nih.gov/books/n/gene/men2/
Multiple Endocrine Neoplasia Type 4https://www.ncbi.nlm.nih.gov/books/n/gene/men4/
Multiple Epiphyseal Dysplasia, Autosomal Dominanthttps://www.ncbi.nlm.nih.gov/books/n/gene/edm-ad/
Multiple Sulfatase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/m-sulfatase-def/
MUTYH Polyposishttps://www.ncbi.nlm.nih.gov/books/n/gene/maps/
MYH9-Related Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/myh9/
Myhre Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/myhre/
Myotonia Congenitahttps://www.ncbi.nlm.nih.gov/books/n/gene/myotonia-c/
Myotonic Dystrophy Type 1https://www.ncbi.nlm.nih.gov/books/n/gene/myotonic-d/
Myotonic Dystrophy Type 2https://www.ncbi.nlm.nih.gov/books/n/gene/myotonic-d2/
MYRF-Related Cardiac Urogenital Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/myrf-cugs/
Nail-Patella Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/nail-ps/
NDP-Related Retinopathieshttps://www.ncbi.nlm.nih.gov/books/n/gene/norrie/
Nephronophthisis-Related Ciliopathieshttps://www.ncbi.nlm.nih.gov/books/n/gene/nephron-ov/
Neurodegeneration with Brain Iron Accumulation Disorders Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/nbia-ov/
Neuroferritinopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/neuroferritin/
Neurofibromatosis 1https://www.ncbi.nlm.nih.gov/books/n/gene/nf1/
Nevoid Basal Cell Carcinoma Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/bcns/
NF2-Related Schwannomatosishttps://www.ncbi.nlm.nih.gov/books/n/gene/nf2/
NFIA-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/nfia-dis/
NFIX-Related Malan Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/nfix-malan/
NGLY1-Related Congenital Disorder of Deglycosylationhttps://www.ncbi.nlm.nih.gov/books/n/gene/ngly1-cddg/
Nicolaides-Baraitser Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/nbs/
Niemann-Pick Disease Type Chttps://www.ncbi.nlm.nih.gov/books/n/gene/npc/
Nijmegen Breakage Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/nijmegen/
NKX2-1-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/nkx2-1-dis/
NKX6-2-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/nkx6-2-spax/
Nonketotic Hyperglycinemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/nkh/
Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Developmenthttps://www.ncbi.nlm.nih.gov/books/n/gene/xxms/
Nonsyndromic Disorders of Testicular Development Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/gonad-dys-46xy/
Nonsyndromic Hearing Loss and Deafness, Mitochondrialhttps://www.ncbi.nlm.nih.gov/books/n/gene/mt-deafness/
Nonsyndromic Retinitis Pigmentosa Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/rp-overview/
Nonsyndromic Tooth Agenesis Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/tooth-agenesis-ov/
Noonan Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/noonan/
Noonan Syndrome with Multiple Lentigineshttps://www.ncbi.nlm.nih.gov/books/n/gene/leopard/
NOTCH3-Related Lateral Meningocele Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/lms/
NR0B1-Related Adrenal Hypoplasia Congenitahttps://www.ncbi.nlm.nih.gov/books/n/gene/ahc/
NR2F1-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/nr2f1-ndd/
NSDHL-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/nsdhl-dis/
NTHL1 Tumor Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/nthl1-ts/
NTRK1 Congenital Insensitivity to Pain with Anhidrosishttps://www.ncbi.nlm.nih.gov/books/n/gene/hsan4/
Nuclear Gene-Encoded Leigh Syndrome Spectrum Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/leigh-nucl-ov/
Oculocutaneous Albinism and Ocular Albinism Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/oca-oa-ov/
Oculocutaneous Albinism Type 4https://www.ncbi.nlm.nih.gov/books/n/gene/oca4/
Oculopharyngeal Muscular Dystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/opmd/
Okur-Chung Neurodevelopmental Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/okur-chung/
Oral-Facial-Digital Syndrome Type Ihttps://www.ncbi.nlm.nih.gov/books/n/gene/ofd1/
Ornithine Transcarbamylase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/otc-def/
Osteoglophonic Dysplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/og-dysp/
Osteopathia Striata with Cranial Sclerosishttps://www.ncbi.nlm.nih.gov/books/n/gene/os-cs/
OTOF-Related Deafnesshttps://www.ncbi.nlm.nih.gov/books/n/gene/dfnb9/
Pachyonychia Congenitahttps://www.ncbi.nlm.nih.gov/books/n/gene/pc/
PACS1 Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/pacs1-ndd/
PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopiahttps://www.ncbi.nlm.nih.gov/books/n/gene/chrom17-lis/
Pancreatitis Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/pancreatitis-ov/
Pantothenate Kinase-Associated Neurodegenerationhttps://www.ncbi.nlm.nih.gov/books/n/gene/pkan/
Parkin Type of Early-Onset Parkinson Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/jpd/
Parkinson Disease Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/parkinson-overview/
PAX2-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/papr/
PAX6-Related Aniridiahttps://www.ncbi.nlm.nih.gov/books/n/gene/aniridia/
Pediatric Genetic Cholestatic Liver Disease Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/chol-liver-ov/
Pelizaeus-Merzbacher-Like Disease 1https://www.ncbi.nlm.nih.gov/books/n/gene/pmld1/
Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueducthttps://www.ncbi.nlm.nih.gov/books/n/gene/pendred/
Periodontal Ehlers-Danlos Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/eds-pd/
Permanent Neonatal Diabetes Mellitushttps://www.ncbi.nlm.nih.gov/books/n/gene/dmn/
Perrault Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/perrault/
Peters Plus Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/peters-plus/
Peutz-Jeghers Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/pjs/
Phelan-McDermid Syndrome-SHANK3 Relatedhttps://www.ncbi.nlm.nih.gov/books/n/gene/gr_22q13_3/
Phenylalanine Hydroxylase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/pku/
Phosphoribosylpyrophosphate Synthetase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/arts/
Phosphoribosylpyrophosphate Synthetase Superactivityhttps://www.ncbi.nlm.nih.gov/books/n/gene/prs/
Phosphorylase Kinase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/gsd9/
PI4KA-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/pi4ka/
PIK3CA-Related Overgrowth Spectrumhttps://www.ncbi.nlm.nih.gov/books/n/gene/pik3ca-overgrowth/
PINK1 Type of Young-Onset Parkinson Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/pink1-pd/
Pitt-Hopkins Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/pitt-hopkins/
PLA2G6-Associated Neurodegenerationhttps://www.ncbi.nlm.nih.gov/books/n/gene/inad/
PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/eds6/
PLP1 Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/pmd/
PLPBP Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/plpbp-def/
PMM2-CDGhttps://www.ncbi.nlm.nih.gov/books/n/gene/cdg-1a/
PNPLA6 Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/pnpla6-dis/
PNPO Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/pnpo-def/
Poikiloderma with Neutropeniahttps://www.ncbi.nlm.nih.gov/books/n/gene/poikiloderma-n/
POLG-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/alpers/
POLR3-Related Leukodystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/pol3-leuk/
Polycystic Kidney Disease, Autosomal Dominanthttps://www.ncbi.nlm.nih.gov/books/n/gene/pkd-ad/
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/plosl/
Pompe Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/gsd2/
PORCN-Related Developmental Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/focal-dh/
POT1 Tumor Predispositionhttps://www.ncbi.nlm.nih.gov/books/n/gene/pot1-tpd/
Potocki-Lupski Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/potocki-lupski/
PPP1R12A-Related Urogenital and/or Brain Malformation Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/ppp1r12a-ubm/
PPP2R1A-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/ppp2r1a-ndd/
PPP2R5D-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/ppp2r5d-dis/
Prader-Willi Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/pws/
PRICKLE1-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/me-ataxia/
Primary Ciliary Dyskinesiahttps://www.ncbi.nlm.nih.gov/books/n/gene/pcd/
Primary Coenzyme Q10 Deficiency Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/coq10-def/
Primary Congenital Glaucomahttps://www.ncbi.nlm.nih.gov/books/n/gene/glc/
Primary Familial and Congenital Polycythemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/pfcp/
Primary Familial Brain Calcificationhttps://www.ncbi.nlm.nih.gov/books/n/gene/bgc/
Primary Hyperoxaluria Type 1https://www.ncbi.nlm.nih.gov/books/n/gene/ph1/
Primary Hyperoxaluria Type 2https://www.ncbi.nlm.nih.gov/books/n/gene/ph2/
Primary Hyperoxaluria Type 3https://www.ncbi.nlm.nih.gov/books/n/gene/ph3/
Primary Mitochondrial Disorders Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/mt-overview/
Primary Pyruvate Dehydrogenase Complex Deficiency Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/pdhc-def-ov/
Primary Trimethylaminuriahttps://www.ncbi.nlm.nih.gov/books/n/gene/trimethylaminuria/
Primrose Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/primrose/
Progressive Myoclonic Epilepsy Type 1https://www.ncbi.nlm.nih.gov/books/n/gene/epm1/
Progressive Myoclonus Epilepsy, Lafora Typehttps://www.ncbi.nlm.nih.gov/books/n/gene/lafora/
Progressive Pseudorheumatoid Dysplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/ppr-dysp/
Prolidase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/prolidase-def/
PROP1-Related Combined Pituitary Hormone Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/prop1/
Propionic Acidemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/propionic-a/
Proteus Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/proteus/
Prothrombin Thrombophiliahttps://www.ncbi.nlm.nih.gov/books/n/gene/ptt/
PRRT2-Related Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/prrt2-parox/
PRSS1-Related Hereditary Pancreatitishttps://www.ncbi.nlm.nih.gov/books/n/gene/prss1-hp/
Pseudohypoaldosteronism Type IIhttps://www.ncbi.nlm.nih.gov/books/n/gene/pha2/
Pseudoxanthoma Elasticumhttps://www.ncbi.nlm.nih.gov/books/n/gene/pxe/
PTEN Hamartoma Tumor Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/phts/
Pulmonary Fibrosis Predisposition Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/pf/
PURA-Related Neurodevelopmental Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/pura-dis/
Pycnodysostosishttps://www.ncbi.nlm.nih.gov/books/n/gene/pycnodys/
Pyridoxine-Dependent Epilepsy – ALDH7A1https://www.ncbi.nlm.nih.gov/books/n/gene/pds/
Pyruvate Carboxylase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/pdc/
RAB18 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/rab18-def/
RERE-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/rere-dis/
Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestationshttps://www.ncbi.nlm.nih.gov/books/n/gene/rvcl/
Retinoblastomahttps://www.ncbi.nlm.nih.gov/books/n/gene/retinoblastoma/
RFC1 CANVAS / Spectrum Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/rfc1-canvas/
Rhabdoid Tumor Predisposition Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/rtps/
Rhizomelic Chondrodysplasia Punctata Type 1https://www.ncbi.nlm.nih.gov/books/n/gene/rcdp/
Riboflavin Transporter Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/riboflavin-tn/
Ritscher-Schinzel Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/ritscher-schinzel/
RNU4atac-opathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/rnu4atac-dis/
ROR2-Related Robinow Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/rob/
Rothmund-Thomson Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/rts/
Rotor Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/rotor/
RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/rpe65-lca/
RPS6KA3-Related Intellectual Disabilityhttps://www.ncbi.nlm.nih.gov/books/n/gene/cls/
RRM2B Mitochondrial DNA Maintenance Defectshttps://www.ncbi.nlm.nih.gov/books/n/gene/rrm2b-mtddepl/
Rubinstein-Taybi Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/rsts/
RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancieshttps://www.ncbi.nlm.nih.gov/books/n/gene/runx1/
Saethre-Chotzen Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/scs/
Salih Myopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/salih-myo/
SALL1-Related Townes-Brocks Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/tbs/
SALL4-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/drrs/
SAMD9L Ataxia-Pancytopenia Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/samd9l-ap/
Sandhoff Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/sandhoff/
SATB2-Associated Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/satb2-dis/
Saul-Wilson Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/saul-wilson/
SCARB2-Related Action Myoclonus – Renal Failure Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/amrf/
Schaaf-Yang Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/schaaf-yang/
Schimke Immunoosseous Dysplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/siod/
Schinzel-Giedion Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/schinzel-giedion/
Schmid Metaphyseal Chondrodysplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/schmid-mcd/
SCN1A Seizure Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/gefs/
SCN3A-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/scn3a-ndd/
SCN8A-Related Epilepsy and/or Neurodevelopmental Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/scn8a-ee/
SCN9A Neuropathic Pain Syndromeshttps://www.ncbi.nlm.nih.gov/books/n/gene/etha/
Sepiapterin Reductase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/spr-def/
SERAC1 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/megdel/
Serine Deficiency Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/serine-def/
SETBP1 Haploinsufficiency Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/setbp1-hd/
SETD1B-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/setd1b-ndd/
SETD2 Neurodevelopmental Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/setd2-ndd/
SGCE Myoclonus-Dystoniahttps://www.ncbi.nlm.nih.gov/books/n/gene/myo-dystonia/
SH3TC2-Related Hereditary Motor and Sensory Neuropathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/cmt4c/
SHORT Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/short/
Short-Chain Acyl-CoA Dehydrogenase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/scad/
SHOX Deficiency Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/lwd/
Shprintzen-Goldberg Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/sgs/
Shwachman-Diamond Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/sds/
Sickle Cell Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/sickle/
Silver-Russell Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/rss/
Simpson-Golabi-Behmel Syndrome Type 1https://www.ncbi.nlm.nih.gov/books/n/gene/sgbs/
Single Large-Scale Mitochondrial DNA Deletion Syndromeshttps://www.ncbi.nlm.nih.gov/books/n/gene/kss/
Sitosterolemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/stsl/
SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizureshttps://www.ncbi.nlm.nih.gov/books/n/gene/slc12a5-e/
SLC25A19-Related Thiamine Metabolism Dysfunctionhttps://www.ncbi.nlm.nih.gov/books/n/gene/amish-mcph/
SLC25A24 Fontaine Progeroid Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/slc25a24-fps/
SLC26A2-Related Atelosteogenesishttps://www.ncbi.nlm.nih.gov/books/n/gene/ao2/
SLC26A2-Related Multiple Epiphyseal Dysplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/edm/
SLC39A14 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/slc39a14-def/
SLC39A8-CDGhttps://www.ncbi.nlm.nih.gov/books/n/gene/slc39a8-cdg/
SLC6A1-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/slc6a1-ndd/
SLC6A3-Related Dopamine Transporter Deficiency Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/slc6a3-dtds/
Smith-Lemli-Opitz Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/slo/
Smith-Magenis Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/sms/
Snyder-Robinson Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/snyder-robinson/
SOST-Related Sclerosing Bone Dysplasiashttps://www.ncbi.nlm.nih.gov/books/n/gene/sost/
Sotos Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/sotos/
SOX2 Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/sox2/
Spastic Paraplegia 11https://www.ncbi.nlm.nih.gov/books/n/gene/spg11/
Spastic Paraplegia 15https://www.ncbi.nlm.nih.gov/books/n/gene/spg15/
Spastic Paraplegia 3Ahttps://www.ncbi.nlm.nih.gov/books/n/gene/spg3a/
Spastic Paraplegia 4https://www.ncbi.nlm.nih.gov/books/n/gene/spg4/
Spastic Paraplegia 7https://www.ncbi.nlm.nih.gov/books/n/gene/spg7/
Spastic Paraplegia 8https://www.ncbi.nlm.nih.gov/books/n/gene/spg8/
Sphingosine Phosphate Lyase Insufficiency Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/sgpl1/
Spinal and Bulbar Muscular Atrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/kennedy/
Spinal Muscular Atrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/sma/
Spinal Muscular Atrophy, X-Linked Infantilehttps://www.ncbi.nlm.nih.gov/books/n/gene/sma-xli/
Spinocerebellar Ataxia Type 1https://www.ncbi.nlm.nih.gov/books/n/gene/sca1/
Spinocerebellar Ataxia Type 10https://www.ncbi.nlm.nih.gov/books/n/gene/sca10/
Spinocerebellar Ataxia Type 11https://www.ncbi.nlm.nih.gov/books/n/gene/sca11/
Spinocerebellar Ataxia Type 13https://www.ncbi.nlm.nih.gov/books/n/gene/sca13/
Spinocerebellar Ataxia Type 14https://www.ncbi.nlm.nih.gov/books/n/gene/sca14/
Spinocerebellar Ataxia Type 17https://www.ncbi.nlm.nih.gov/books/n/gene/sca17/
Spinocerebellar Ataxia Type 2https://www.ncbi.nlm.nih.gov/books/n/gene/sca2/
Spinocerebellar Ataxia Type 20https://www.ncbi.nlm.nih.gov/books/n/gene/sca20/
Spinocerebellar Ataxia Type 28https://www.ncbi.nlm.nih.gov/books/n/gene/sca28/
Spinocerebellar Ataxia Type 3https://www.ncbi.nlm.nih.gov/books/n/gene/sca3/
Spinocerebellar Ataxia Type 37https://www.ncbi.nlm.nih.gov/books/n/gene/sca37/
Spinocerebellar Ataxia Type 38https://www.ncbi.nlm.nih.gov/books/n/gene/sca38/
Spinocerebellar Ataxia Type 6https://www.ncbi.nlm.nih.gov/books/n/gene/sca6/
Spinocerebellar Ataxia Type 7https://www.ncbi.nlm.nih.gov/books/n/gene/sca7/
Spinocerebellar Ataxia Type 8https://www.ncbi.nlm.nih.gov/books/n/gene/sca8/
Spinocerebellar Ataxia with Axonal Neuropathy Type 1https://www.ncbi.nlm.nih.gov/books/n/gene/scan1/
Spondylocostal Dysostosis, Autosomal Recessivehttps://www.ncbi.nlm.nih.gov/books/n/gene/spondylocostal-d/
Spondylometaphyseal Dysplasia, Corner Fracture Typehttps://www.ncbi.nlm.nih.gov/books/n/gene/smdcf/
SPTBN4 Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/sptbn4/
SPTLC1-Related Hereditary Sensory Neuropathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/hsn1/
Squalene Synthase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/ss-def/
STAC3 Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/stac3-dis/
STAT3 Hyper IgE Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/higes/
Stickler Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/stickler/
STRC-Related Autosomal Recessive Hearing Losshttps://www.ncbi.nlm.nih.gov/books/n/gene/strc-hearing-loss/
Strømme Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/stromme/
STXBP1 Encephalopathy with Epilepsyhttps://www.ncbi.nlm.nih.gov/books/n/gene/stxbp1-ee/
Succinic Semialdehyde Dehydrogenase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/ssadh/
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduriahttps://www.ncbi.nlm.nih.gov/books/n/gene/sucla2-def/
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduriahttps://www.ncbi.nlm.nih.gov/books/n/gene/suclg1-mtddepl/
SYNE1 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/syne1ca-ar/
SYNGAP1-Related Intellectual Disabilityhttps://www.ncbi.nlm.nih.gov/books/n/gene/syngap1-id/
Systemic Primary Carnitine Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/cdsp/
Tangier Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/tangier/
TANGO2 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/tango2-mea/
TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementiahttps://www.ncbi.nlm.nih.gov/books/n/gene/tardbp-als/
Tatton-Brown-Rahman Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/tbrs/
TBC1D24-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/tbc1d24-dis/
TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disabilityhttps://www.ncbi.nlm.nih.gov/books/n/gene/tecpr2-hsan-id/
TEK-Related Venous Malformationshttps://www.ncbi.nlm.nih.gov/books/n/gene/vmcm/
TET3-Related Beck-Fahrner Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/beck-fahrner/
TFR2-Related Hemochromatosishttps://www.ncbi.nlm.nih.gov/books/n/gene/tfr2/
Thanatophoric Dysplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/td/
Thiamine-Responsive Megaloblastic Anemia Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/trma/
THOC6 Intellectual Disability Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/thoc6-id/
Three M Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/gr_3ms/
Thrombocytopenia Absent Radius Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/tar/
TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Formhttps://www.ncbi.nlm.nih.gov/books/n/gene/tk2-mtddepl/
TNF Receptor-Associated Periodic Fever Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/traps/
TNXB-Related Classical-Like Ehlers-Danlos Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/tnxb-eds/
TP63-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/aec/
Treacher Collins Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/tcs/
Trichohepatoenteric Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/sd-thes/
Trichorhinophalangeal Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/tps/
TRIO-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/trio-id/
TRMU Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/trmu-def/
Troyer Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/spg20/
TRPM3-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/trpm3-ndd/
TSEN54 Pontocerebellar Hypoplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/pc-hypo-p/
TUBB4A-Related Leukodystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/tubb4a-leuk/
Tuberous Sclerosis Complexhttps://www.ncbi.nlm.nih.gov/books/n/gene/tuberous-sclerosis/
Tubulinopathies Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/tubulin-ov/
TXNL4A-Related Craniofacial Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/burn-mckeown/
Type II Collagen Disorders Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/collagen-2/
Tyrosine Hydroxylase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/thdrd/
Tyrosinemia Type Ihttps://www.ncbi.nlm.nih.gov/books/n/gene/tyrosinemia/
Udd Distal Myopathy – Tibial Muscular Dystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/udd/
UNC80 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/unc80-def/
Urea Cycle Disorders Overviewhttps://www.ncbi.nlm.nih.gov/books/n/gene/ucd-overview/
Urofacial Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/urofacial/
Usher Syndrome Type Ihttps://www.ncbi.nlm.nih.gov/books/n/gene/usher1/
Usher Syndrome Type IIhttps://www.ncbi.nlm.nih.gov/books/n/gene/usher2/
Variegate Porphyriahttps://www.ncbi.nlm.nih.gov/books/n/gene/porphyria-var/
Vascular Ehlers-Danlos Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/eds4/
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/vlcad/
VLDLR Cerebellar Hypoplasiahttps://www.ncbi.nlm.nih.gov/books/n/gene/vldlr-ch/
Von Hippel-Lindau Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/vhl/
von Willebrand Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/von-willebrand/
VPS13A Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/chac/
VPS13D Movement Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/vps13d-md/
VPS35-Related Parkinson Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/vps35-pd/
Waardenburg Syndrome Type Ihttps://www.ncbi.nlm.nih.gov/books/n/gene/ws1/
WAC-Related Intellectual Disabilityhttps://www.ncbi.nlm.nih.gov/books/n/gene/wac-id/
WARS2 Deficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/wars2-def/
Warsaw Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/warsaw/
WAS-Related Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/was/
WDR26-Related Intellectual Disabilityhttps://www.ncbi.nlm.nih.gov/books/n/gene/wdr26-id/
WDR62 Primary Microcephalyhttps://www.ncbi.nlm.nih.gov/books/n/gene/wdr62-pm/
Weill-Marchesani Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/weill-ms/
Weiss-Kruszka Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/weiss-kruszka/
Werner Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/werner/
WFS1 Spectrum Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/wfs/
White-Sutton Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/white-sutton/
Wiedemann-Steiner Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/wiedemann-steiner/
Williams Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/williams/
Wilms Tumor Predispositionhttps://www.ncbi.nlm.nih.gov/books/n/gene/wilms-ov/
Wilson Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/wilson/
Woodhouse-Sakati Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/wss/
WT1 Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/wt1-dis/
Xeroderma Pigmentosumhttps://www.ncbi.nlm.nih.gov/books/n/gene/xp/
Xia-Gibbs Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/xia-gibbs/
X-Linked Acrogigantismhttps://www.ncbi.nlm.nih.gov/books/n/gene/x-ag/
X-Linked Adrenoleukodystrophyhttps://www.ncbi.nlm.nih.gov/books/n/gene/x-ald/
X-Linked Agammaglobulinemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/xla/
X-Linked Congenital Retinoschisishttps://www.ncbi.nlm.nih.gov/books/n/gene/retinoschisis/
X-Linked Congenital Stationary Night Blindnesshttps://www.ncbi.nlm.nih.gov/books/n/gene/csnb/
X-Linked Dystonia-Parkinsonismhttps://www.ncbi.nlm.nih.gov/books/n/gene/xdp/
X-Linked Hyper IgM Syndromehttps://www.ncbi.nlm.nih.gov/books/n/gene/xlhi/
X-Linked Hypophosphatemiahttps://www.ncbi.nlm.nih.gov/books/n/gene/rickets-xlh/
X-Linked Lymphoproliferative Diseasehttps://www.ncbi.nlm.nih.gov/books/n/gene/x-lpd/
X-Linked Myotubular Myopathyhttps://www.ncbi.nlm.nih.gov/books/n/gene/mtm/
X-Linked Otopalatodigital Spectrum Disordershttps://www.ncbi.nlm.nih.gov/books/n/gene/opd/
X-Linked Protoporphyriahttps://www.ncbi.nlm.nih.gov/books/n/gene/epp-xl/
X-Linked Severe Combined Immunodeficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/x-scid/
X-Linked Spondyloepiphyseal Dysplasia Tardahttps://www.ncbi.nlm.nih.gov/books/n/gene/sedt/
Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediatedhttps://www.ncbi.nlm.nih.gov/books/n/gene/xq28-dup/
Y Chromosome Infertilityhttps://www.ncbi.nlm.nih.gov/books/n/gene/yci/
YIF1B-Related Neurodevelopmental Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/yif1b-ndd/
ZAP70-Related Combined Immunodeficiencyhttps://www.ncbi.nlm.nih.gov/books/n/gene/zap70-scid/
Zellweger Spectrum Disorderhttps://www.ncbi.nlm.nih.gov/books/n/gene/pbd/
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